Rs1801282

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Associated with T2D and fat metabolism.
Orientationplus
is asnp
is mentioned by
dbSNPrs1801282
PheGenIrs1801282
nextbiors1801282
hapmaprs1801282
1000 genomesrs1801282
hgdprs1801282
ensemblrs1801282
gopubmedrs1801282
geneviewrs1801282
scholarrs1801282
googlers1801282
pharmgkbrs1801282
gwascentralrs1801282
openSNPrs1801282
23andMers1801282
23andMe allrs1801282
SNP Nexus

SNPshotrs1801282
SNPdbers1801282
MSV3drs1801282
GenePPARG
Merged fromRs17241090
Chromosome3
Orientationplus
Position12393125
ReferenceGRCh37 37.1/131
Max Magnitude3
Geno Mag Summary
(C;C) 0.1 common in clinvar
(C;G) 3 watch out for high fat in diet
(G;G) 3 watch out for high fat in diet
? (C;C) (C;G) (G;G) 28
rs1801282, also known as Pro12Ala, is a common SNP in the peroxisome proliferator-activated receptor PPARG gene. The more common (C) allele (in dbSNP orientation) encodes the 'Pro' amino acid at this SNP position.

rs1801282 has been reported to be associated with metabolic syndrome, but other studies have not been able to replicate any strong or significant effect. [PMID 18959602]

[PMID 17554300] The association between type-1 diabetes and SNP rs1801282 is mentioned as being replicated in

[PMID 18280041] rs1801282 and risk of cognitive decline in elders? Maybe with diabetes.

[PMID 19228871] A ten-year study of 679 male patients with symptomatic coronary artery disease found that rs1801282(G) carriers had a much lower (10 year) cardiovascular risk, with the hazard ratio estimated to be 0.10 (CI: 0.01-0.70, p = 0.02) for ischemic heart disease and 0.24 for vascular death (CI: 0.08-0.74, p = 0.013) per copy of the allele.

23andMe blog carriers could be informed that they really need to watch out for high fat in their diets


Venter snp
Source plos
Gene PPARG
allele G
frequency 0.075
sift
HuRef 1103656026969
Disease Association Variation in PPARG is associated with carotid intimal medial thickness 1 (CIMT1) (MIM:609338). CIMT is a measure of atherosclerosis that is independently associated with traditional atherosclerotic cardiovascular disease risk factors and coronary atherosclerotic burden. 35 to 45% of the variability in multivariable-adjusted CIMT is explained by genetic factors.



Neighborrs17241090
Distance1
GWAS snp
PMID [PMID 17463246]
Trait Type 2 diabetes
Title Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
Risk Allele C
P-val 0.0000019999999999999999
Odds Ratio 1.14 [1.08-1.20]
GWAS snp
PMID [PMID 17463248]
Trait Type 2 diabetes
Title A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants
Risk Allele C
P-val 0.0000019999999999999999
Odds Ratio 1.14 [1.08-1.20]
GWAS snp
PMID [PMID 17463249]
Trait Type 2 diabetes
Title Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes
Risk Allele C
P-val 0.0000019999999999999999
Odds Ratio 1.14 [1.08-1.20]

[PMID 18972257] Comparison of genetic risk in three candidate genes (TCF7L2, PPARG, KCNJ11) with traditional risk factors for type 2 diabetes in a population-based study--the HUNT study

[PMID 18996470] Rapid and cost effective genotyping method for polymorphisms in PPARG, PPARGC1 and TCF7L2 genes


[PMID 19543210] PPARG Genotype Accounts for Part of Individual Variation in Body Weight Reduction in Response to Calorie Restriction

OMIM601487
DescPEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA; PPARG
Variant
Relatedalso

[PMID 19644638] No association between polymorphisms of proliferator-activated receptor-gamma gene and peak bone mineral density variation in Chinese nuclear families

[PMID 19720797] Impact of The PPAR-{gamma}2 Pro12Ala polymorphism and ACE inhibitor therapy on new-onset microalbuminuria in type 2 Diabetes: evidence from Benedict

[PMID 19733160] Gender specific effect of Pro12Ala polymorphism in Peroxisome Proliferator-Activated Receptorgamma-2 gene on obesity risk and leptin levels in a Tunisian population

[PMID 19745552] Pro12Ala Polymorphism of the Peroxisome ProliferatorActivated Receptor-gamma Gene is Associated With Metabolic Syndrome and Surrogate Measures of Insulin Resistance in Healthy Men


[PMID 20043145] Improvements in glucose homeostasis in response to regular exercise are influenced by the PPARG Pro12Ala variant: results from the HERITAGE Family Study


[PMID 20179158] The Association Between the Peroxisome Proliferator-Activated Receptor-{gamma}2 (PPARG2) Pro12Ala Gene Variant and Type 2 Diabetes Mellitus: A HuGE Review and Meta-Analysis


[PMID 20596649] PPARgamma polymorphisms and cancer risk: A meta-analysis involving 32,138 subjects


[PMID 21178094] A Two-Step Association Study Identifies CAV2 rs2270188 Single Nucleotide Polymorphism Interaction with Fat Intake in Type 2 Diabetes Risk


[PMID 21263402] Association of PPARG and LPIN1 gene polymorphisms with metabolic syndrome and type 2 diabetes

OMIM601487
Desc
Variant0002
Relatedalso


[PMID 21968139] Polymorphism of peroxisome proliferator-activated receptor ? (PPAR?) Pro12Ala in the Iranian population: Relation with insulin resistance and response to treatment with pioglitazone in type 2 diabetes


[PMID 22091247] Genotyping of peroxisome proliferator-activated receptor gamma (PPAR-?) polymorphism (Pro12Ala) in Iranian population


[PMID 22419714] Effect of Type 2 Diabetes Predisposing Genetic Variants on Colorectal Cancer Risk


[PMID 22509538] [Meta-analysis of the association of Pro12Ala polymorphism of peroxisome proliferator activated receptor gamma gene with type 2 diabetes in Chinese Han population]


[PMID 22515931] Association of the PPARG Pro12Ala polymorphism with type 2 diabetes and incident coronary heart disease in a Hong Kong Chinese population


[PMID 22569928] Analysis of common type 2 diabetes mellitus genetic risk factors in new-onset diabetes after transplantation in kidney transplant patients medicated with tacrolimus


ClinVar
Risk rs1801282(G;G)
Normal rs1801282(C;C)
Significance 5
Disease
ClinVar info
Gene PPARG
CLNDBN
Reversed 0
CLNHGVS NC_000003.11:g.12393125C>G
CLNSRC



[PMID 16713673] Variations in the peroxisome proliferator-activated receptor-gamma gene and melanoma risk.


[PMID 17094261] Effect of the peroxisome proliferators-activated receptor (PPAR) gamma 3 gene on BMI in 1,210 school students from Morelos, Mexico.


[PMID 17187763] Analysis of PGC-1alpha variants Gly482Ser and Thr612Met concerning their PPARgamma2-coactivation function.


[PMID 17213274] Effects of the type 2 diabetes-associated PPARG P12A polymorphism on progression to diabetes and response to troglitazone.


[PMID 17348446] Nested case-control study of energy regulation candidate gene single nucleotide polymorphisms and breast cancer.


[PMID 17355643] Frequencies of single nucleotide polymorphisms in genes regulating inflammatory responses in a community-based population.


[PMID 17570749] Genetic prediction of future type 2 diabetes.


[PMID 17786212] Heterogeneity in meta-analyses of genome-wide association investigations.


[PMID 17825092] Genetic association of glutathione peroxidase-1 with coronary artery calcification in type 2 diabetes: a case control study with multi-slice computed tomography.


[PMID 17903291] The Framingham Heart Study 100K SNP genome-wide association study resource: overview of 17 phenotype working group reports.


[PMID 17903298] Genome-wide association with diabetes-related traits in the Framingham Heart Study.


[PMID 17903300] Genome-wide association to body mass index and waist circumference: the Framingham Heart Study 100K project.


[PMID 18091023] SNPs in PPARG associate with type 2 diabetes and interact with physical activity.


[PMID 18160840] The association of Pro12Ala polymorphism of peroxisome proliferator-activated receptor-gamma gene with serum osteoprotegerin levels in healthy Korean women.


[PMID 18162508] Association of CDKAL1, IGF2BP2, CDKN2A/B, HHEX, SLC30A8, and KCNJ11 with susceptibility to type 2 diabetes in a Japanese population.


[PMID 18224312] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.


[PMID 18282109] Adaptations to climate in candidate genes for common metabolic disorders.


[PMID 18288282] Genetic polymorphisms of peroxisome proliferator-activated receptors and the risk of cardiovascular morbidity and mortality in a community-based cohort in washington county, Maryland.


[PMID 18304332] No evidence for association between BMI and 10 candidate genes at ages 4, 7 and 10 in a large UK sample of twins.


[PMID 18319073] Using the optimal receiver operating characteristic curve to design a predictive genetic test, exemplified with type 2 diabetes.


[PMID 18340007] Association of stearoyl-CoA desaturase 1 activity with familial combined hyperlipidemia.


[PMID 18372903] Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.


[PMID 18401448] PPAR Genomics and Pharmacogenomics: Implications for Cardiovascular Disease.


[PMID 18426861] Association analysis of type 2 diabetes Loci in type 1 diabetes.


[PMID 18426866] Association of FTO with obesity-related traits in the Cebu Longitudinal Health and Nutrition Survey (CLHNS) Cohort.


[PMID 18498634] The genetic susceptibility to type 2 diabetes may be modulated by obesity status: implications for association studies.


[PMID 18513389] New application of intelligent agents in sporadic amyotrophic lateral sclerosis identifies unexpected specific genetic background.


[PMID 18533027] Worldwide population differentiation at disease-associated SNPs.


[PMID 18591388] Assessing the combined impact of 18 common genetic variants of modest effect sizes on type 2 diabetes risk.


[PMID 18598350] Impact of nine common type 2 diabetes risk polymorphisms in Asian Indian Sikhs: PPARG2 (Pro12Ala), IGF2BP2, TCF7L2 and FTO variants confer a significant risk.


[PMID 18603647] Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.


[PMID 18678618] Comprehensive association study of type 2 diabetes and related quantitative traits with 222 candidate genes.


[PMID 18689899] Exchangeable models of complex inherited diseases.


[PMID 18694974] Predicting type 2 diabetes based on polymorphisms from genome-wide association studies: a population-based study.


[PMID 18707223] PPARG by dietary fat interaction influences bone mass in mice and humans.


[PMID 18782870] Clinical review: the genetics of type 2 diabetes: a realistic appraisal in 2008.


[PMID 18787887] Genetic variation in candidate osteoporosis genes, bone mineral density, and fracture risk: the study of osteoporotic fractures.


[PMID 18805939] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.


[PMID 18806092] Perilipin polymorphism interacts with dietary carbohydrates to modulate anthropometric traits in hispanics of Caribbean origin.


[PMID 18852197] Metabolic and cardiovascular traits: an abundance of recently identified common genetic variants.


[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.


[PMID 18992148] Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study.


[PMID 18992263] Colon tumor mutations and epigenetic changes associated with genetic polymorphism: insight into disease pathways.


[PMID 19002430] Type 2 diabetes-associated genetic variants discovered in the recent genome-wide association studies are related to gestational diabetes mellitus in the Korean population.


[PMID 19020323] Genotype score in addition to common risk factors for prediction of type 2 diabetes.


[PMID 19056611] Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome-wide association data.


[PMID 19096518] Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study.


[PMID 19131662] A meta-analysis of candidate gene polymorphisms and ischemic stroke in 6 study populations: association of lymphotoxin-alpha in nonhypertensive patients.


[PMID 19161620] An open access database of genome-wide association results.


[PMID 19178525] PPARgamma Pro12Ala Pro/Pro and resistin SNP-420 G/G genotypes are synergistically associated with plasma resistin in the Japanese general population.


[PMID 19207020] Meta-analysis in genome-wide association studies.


[PMID 19223982] Genetic Variability of RXRB, PPARA, and PPARG in Wegener's Granulomatosis.


[PMID 19263529] Genetic risk factors in recurrent venous thromboembolism: A multilocus, population-based, prospective approach.


[PMID 19279076] Genetic predisposition, Western dietary pattern, and the risk of type 2 diabetes in men.


[PMID 19323962] Genome-wide association studies in type 2 diabetes.


[PMID 19324937] Previously associated type 2 diabetes variants may interact with physical activity to modify the risk of impaired glucose regulation and type 2 diabetes: a study of 16,003 Swedish adults.


[PMID 19341491] Genome-based prediction of common diseases: methodological considerations for future research.


[PMID 19360113] The Role of the PGC1alpha Gly482Ser Polymorphism in Weight Gain due to Intensive Diabetes Therapy.


[PMID 19401414] Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.


[PMID 19455305] No association of multiple type 2 diabetes loci with type 1 diabetes.


[PMID 19460916] Genetic architecture of type 2 diabetes: recent progress and clinical implications.


[PMID 19502414] Association of 18 confirmed susceptibility loci for type 2 diabetes with indices of insulin release, proinsulin conversion, and insulin sensitivity in 5,327 nondiabetic Finnish men.


[PMID 19526209] Is the thrifty genotype hypothesis supported by evidence based on confirmed type 2 diabetes- and obesity-susceptibility variants?


[PMID 19567509] Genetic variants and prostate cancer risk: candidate replication and exploration of viral restriction genes.


[PMID 19587357] A systematic meta-analysis of genetic association studies for diabetic retinopathy.


[PMID 19602701] Underlying genetic models of inheritance in established type 2 diabetes associations.


[PMID 19603096] An analysis of growth, differentiation and apoptosis genes with risk of renal cancer.


[PMID 19634985] Peroxisome proliferator-activated receptor-gamma (PPARgamma) Pro12Ala polymorphism and risk for pediatric obesity.


[PMID 19660836] APOE dependent-association of PPAR-gamma genetic variants with Alzheimer's disease risk.


[PMID 19846176] PPARG and ADIPOQ gene polymorphisms increase type 2 diabetes mellitus risk in Asian Indian Sikhs: Pro12Ala still remains as the strongest predictor.


[PMID 19862325] PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population.


[PMID 19931040] Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies.


[PMID 19956539] How many genetic variants remain to be discovered?


[PMID 20017978] Influence of control selection in genome-wide association studies: the example of diabetes in the Framingham Heart Study.


[PMID 20018041] The effect of multiple genetic variants in predicting the risk of type 2 diabetes.


[PMID 20018066] Epistatic interactions of CDKN2B-TCF7L2 for risk of type 2 diabetes and of CDKN2B-JAZF1 for triglyceride/high-density lipoprotein ratio longitudinal change: evidence from the Framingham Heart Study.


[PMID 20043853] Prioritizing genes for follow-up from genome wide association studies using information on gene expression in tissues relevant for type 2 diabetes mellitus.


[PMID 20049090] Association between type 2 diabetes loci and measures of fatness.


[PMID 20075150] Utility of genetic and non-genetic risk factors in prediction of type 2 diabetes: Whitehall II prospective cohort study.


[PMID 20079163] Effect of genetic variants in KCNJ11, ABCC8, PPARG and HNF4A loci on the susceptibility of type 2 diabetes in Chinese Han population.


[PMID 20144327] A genomics study of type 2 diabetes mellitus in U.S. Air Force personnel.


[PMID 20161779] Investigation of type 2 diabetes risk alleles support CDKN2A/B, CDKAL1, and TCF7L2 as susceptibility genes in a Han Chinese cohort.


[PMID 20424228] Impact of common variants of PPARG, KCNJ11, TCF7L2, SLC30A8, HHEX, CDKN2A, IGF2BP2, and CDKAL1 on the risk of type 2 diabetes in 5,164 Indians.


[PMID 20437058] The utility and predictive value of combinations of low penetrance genes for screening and risk prediction of colorectal cancer.


[PMID 20580778] An age-dependent diet-modified effect of the PPARgamma Pro12Ala polymorphism in children.


[PMID 20712903] Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.


[PMID 20811626] Genetic variants in inflammation-related genes are associated with radiation-induced toxicity following treatment for non-small cell lung cancer.


[PMID 20930717] D2 Thr92Ala and PPARgamma2 Pro12Ala polymorphisms interact in the modulation of insulin resistance in type 2 diabetic patients.


[PMID 21252350] Variants of the human PPARG locus and the susceptibility to chronic periodontitis.


[PMID 21278902] Genetic risk profiling for prediction of type 2 diabetes.


[PMID 21283728] Genetic variants of diabetes risk and incident cardiovascular events in chronic coronary artery disease.


[PMID 21487230] Effects of peroxisome proliferator-activated receptors, dietary fat intakes and gene-diet interactions on peak particle diameters of low-density lipoproteins.


[PMID 21710534] Association of peroxisome proliferator-activated receptor gamma polymorphisms with inflammatory bowel disease in a Hungarian cohort.


[PMID 21756892] PPARG gene promoter polymorphism is associated with non-traumatic hip fracture risk in the elderly Slovenian population: a pilot study.


[PMID 21834909] A replication study of the IRS1, CAPN10, TCF7L2, and PPARG gene polymorphisms associated with type 2 diabetes in two different populations of Mexico.


[PMID 22023374] Application of back propagation artificial neural network on genetic variants in adiponectin ADIPOQ, peroxisome proliferator-activated receptor-gamma, and retinoid X receptor-alpha genes and type 2 diabetes risk in a Chinese Han population.


[PMID 22179955] Genetic predictors of weight loss and weight regain after intensive lifestyle modification, metformin treatment, or standard care in the Diabetes Prevention Program.


[PMID 22377712] Association between type 2 diabetes genetic susceptibility loci and visceral and subcutaneous fat area as determined by computed tomography.


[PMID 22377714] Impact of common type 2 diabetes risk gene variants on future type 2 diabetes in the non-diabetic population in Korea.


[PMID 22378291] PPARgamma2 gene Pro12Ala and PPARalpha gene Leu162Val single nucleotide polymorphisms interact with dietary intake of fat in determination of plasma lipid concentrations.


[PMID 22410809] Association of PPAR-gamma gene polymorphisms with obesity and obesity-associated phenotypes in north indian population.


[PMID 22528626] Lifestyle factors modify obesity risk linked to PPARG2 and FTO variants in an elderly population: a cross-sectional analysis in the SUN Project.

GWAS snp
PMID [PMID 22581228]
Trait
Title A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance.
Risk Allele
P-val 2E-7
Odds Ratio None None


[PMID 23036708] Association of MTHFR and PPARγ2 genes polymorphism in relation to type 2 diabetes mellitus cases among north Indian population


GET Evidence
PPARG-P12A
aa_change Pro12Ala
aa_change_short P12A
impact not reviewed
qualified_impact Moderate clinical importance, Uncertain not reviewed
overall_frequency 0.0886782
summary



Response to Diet and Exercise


[PMID 23386649] Common Genetic Variants in Peroxisome Proliferator-Activated Receptor-γ (PPARG) and Type 2 Diabetes Risk Among Women's Health Initiative Postmenopausal Women


[PMID 23448101] Does PPARγ2 Gene Pro12Ala Polymorphism Affect Nonalcoholic Fatty Liver Disease Risk? Evidence from a Meta-Analysis


[PMID 23559865] Association of Pro12Ala polymorphism in peroxisome proliferator activated receptor gamma with proliferative diabetic retinopathy


[PMID 23633103] Association of Pro12Ala (rs1801282) variant of PPAR gamma with Rheumatoid Arthritis in a Pakistani population

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